ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.983G>A (p.Arg328His)

gnomAD frequency: 0.00022  dbSNP: rs145376667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671821 SCV000796844 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532117 SCV003268722 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 328 of the MLC1 protein (p.Arg328His). This variant is present in population databases (rs145376667, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MLC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 555906). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MLC1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002532116 SCV003711413 uncertain significance Inborn genetic diseases 2022-07-29 criteria provided, single submitter clinical testing The c.983G>A (p.R328H) alteration is located in exon 11 (coding exon 10) of the MLC1 gene. This alteration results from a G to A substitution at nucleotide position 983, causing the arginine (R) at amino acid position 328 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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